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Items: 1 to 20 of 93

1.

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.

Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C.

Neuron. 2016 Apr 19. pii: S0896-6273(16)30064-2. doi: 10.1016/j.neuron.2016.04.006. [Epub ahead of print]

PMID:
27112497
2.

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

Todd TW, Petrucelli L.

J Neurochem. 2016 Mar 26. doi: 10.1111/jnc.13623. [Epub ahead of print] Review.

PMID:
27016280
3.

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, Perkerson EA, Yue M, Chew J, Castanedes-Casey M, Kurti A, Wang ZS, Liesinger AM, Baker JD, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Rademakers R, Boylan KB, Bu G, Link CD, Dickey CA, Rothstein JD, Dickson DW, Fryer JD, Petrucelli L.

Nat Neurosci. 2016 May;19(5):668-77. doi: 10.1038/nn.4272. Epub 2016 Mar 21.

PMID:
26998601
4.

Updated TDP-43 in Alzheimer's disease staging scheme.

Josephs KA, Murray ME, Whitwell JL, Tosakulwong N, Weigand SD, Petrucelli L, Liesinger AM, Petersen RC, Parisi JE, Dickson DW.

Acta Neuropathol. 2016 Apr;131(4):571-85. doi: 10.1007/s00401-016-1537-1. Epub 2016 Jan 25.

PMID:
26810071
5.

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Esanov R, Belle KC, van Blitterswijk M, Belzil VV, Rademakers R, Dickson DW, Petrucelli L, Boylan KB, Dykxhoorn DM, Wuu J, Benatar M, Wahlestedt C, Zeier Z.

Exp Neurol. 2016 Mar;277:171-7. doi: 10.1016/j.expneurol.2015.12.022. Epub 2015 Dec 31.

PMID:
26746986
6.

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.

Peters OM, Cabrera GT, Tran H, Gendron TF, McKeon JE, Metterville J, Weiss A, Wightman N, Salameh J, Kim J, Sun H, Boylan KB, Dickson D, Kennedy Z, Lin Z, Zhang YJ, Daughrity L, Jung C, Gao FB, Sapp PC, Horvitz HR, Bosco DA, Brown SP, de Jong P, Petrucelli L, Mueller C, Brown RH Jr.

Neuron. 2015 Dec 2;88(5):902-9. doi: 10.1016/j.neuron.2015.11.018.

PMID:
26637797
7.

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.

O'Rourke JG, Bogdanik L, Muhammad AK, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, Ho R, Bell S, Carmona S, Simpkinson M, Lall D, Wu K, Daughrity L, Dickson DW, Harms MB, Petrucelli L, Lee EB, Lutz CM, Baloh RH.

Neuron. 2015 Dec 2;88(5):892-901. doi: 10.1016/j.neuron.2015.10.027.

PMID:
26637796
8.

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

Mohagheghi F, Prudencio M, Stuani C, Cook C, Jansen-West K, Dickson DW, Petrucelli L, Buratti E.

Hum Mol Genet. 2016 Feb 1;25(3):534-45. doi: 10.1093/hmg/ddv491. Epub 2015 Nov 27.

PMID:
26614389
9.

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R.

Acta Neuropathol. 2015 Dec;130(6):863-76. doi: 10.1007/s00401-015-1480-6. Epub 2015 Oct 5.

PMID:
26437865
10.

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.

Tran H, Almeida S, Moore J, Gendron TF, Chalasani U, Lu Y, Du X, Nickerson JA, Petrucelli L, Weng Z, Gao FB.

Neuron. 2015 Sep 23;87(6):1207-14. doi: 10.1016/j.neuron.2015.09.015.

PMID:
26402604
11.

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.

Mackenzie IR, Frick P, Grässer FA, Gendron TF, Petrucelli L, Cashman NR, Edbauer D, Kremmer E, Prudlo J, Troost D, Neumann M.

Acta Neuropathol. 2015 Dec;130(6):845-61. doi: 10.1007/s00401-015-1476-2. Epub 2015 Sep 15.

PMID:
26374446
12.

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.

Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, Rousseau L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Rademakers R, Lagier-Tourenne C, Edbauer D, Cleveland DW, Dickson DW, Petrucelli L, Boylan KB.

Acta Neuropathol. 2015 Oct;130(4):559-73. doi: 10.1007/s00401-015-1474-4. Epub 2015 Sep 8.

13.

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, Petrucelli L, Kim HJ, Gao FB, Taylor JP.

Nature. 2015 Sep 3;525(7567):129-33. doi: 10.1038/nature14974. Epub 2015 Aug 26.

14.

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.

Cook C, Kang SS, Carlomagno Y, Lin WL, Yue M, Kurti A, Shinohara M, Jansen-West K, Perkerson E, Castanedes-Casey M, Rousseau L, Phillips V, Bu G, Dickson DW, Petrucelli L, Fryer JD.

Hum Mol Genet. 2015 Nov 1;24(21):6198-212. doi: 10.1093/hmg/ddv336. Epub 2015 Aug 13.

15.

TAR DNA-binding protein 43 and pathological subtype of Alzheimer's disease impact clinical features.

Josephs KA, Whitwell JL, Tosakulwong N, Weigand SD, Murray ME, Liesinger AM, Petrucelli L, Senjem ML, Ivnik RJ, Parisi JE, Petersen RC, Dickson DW.

Ann Neurol. 2015 Nov;78(5):697-709. doi: 10.1002/ana.24493. Epub 2015 Sep 16.

PMID:
26224156
16.

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, Baker MC, Perkerson RB, van Blitterswijk M, Stetler CT, Rademakers R, Link CD, Dickson DW, Boylan KB, Li H, Petrucelli L.

Nat Neurosci. 2015 Aug;18(8):1175-82. doi: 10.1038/nn.4065. Epub 2015 Jul 20.

17.

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, Stetler C, Daughrity LM, Perkerson EA, Desaro P, Johnston A, Overstreet K, Edbauer D, Rademakers R, Boylan KB, Dickson DW, Fryer JD, Petrucelli L.

Science. 2015 Jun 5;348(6239):1151-4. doi: 10.1126/science.aaa9344. Epub 2015 May 14.

18.

A novel tau mutation, p.K317N, causes globular glial tauopathy.

Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

Acta Neuropathol. 2015 Aug;130(2):199-214. doi: 10.1007/s00401-015-1425-0. Epub 2015 Apr 22.

PMID:
25900293
19.

Understanding biomarkers of neurodegeneration: Novel approaches to detecting tau pathology.

Cook CN, Murray ME, Petrucelli L.

Nat Med. 2015 Mar;21(3):219-20. doi: 10.1038/nm.3809. No abstract available.

PMID:
25742457
20.

Linking the VPS35 and EIF4G1 pathways in Parkinson's disease.

Ross OA, Cook C, Petrucelli L.

Neuron. 2015 Jan 7;85(1):1-3. doi: 10.1016/j.neuron.2014.12.045.

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